A congenital ichthyosiform syndrome with deafness and keratitis

Abstract

This is a report on two children with a syndrome characterized by an extensive congenital ichthyosiform eruption, neurosensory deafness, hypotrichosis, partial anhidrosis, and vascularization of the cornea. The facial involvement is distinctive. Other features are dystrophy of the nails and tight heel cords. Both children are of normal intelligence. The inheritance pattern is unknown.

Fatal Septicemia in an Infant with Keratitis, Ichthyosis, and Deafness (KID) Syndrome

“…It is postulated to be an autosomal dominant disorder, in which most cases represent new mutations (4,5). Other frequently reported findings include recurrent skin infections, malformed or absent nails, alopecia or sparse hair, teeth anomalies, hypohidrosis, short heel cords, growth delay, and development of squamous cell carcinoma (6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Increased susceptibility to viral, bacterial, and mycotic infections has also been observed, and a number of patients have undergone extensive investigations for immunologic dysfunction (3,(11)(12)(13)(14)(15)(16)(17)(18)(19).…”

Spiney hyperkeratosis with hair shaft alterations, keratitis and deafness

“…The keratotic plugs at the mouth of hair follieles must be differentiated clinically from those of ulerythema ophryogenes, keratosis follicularis spinulosa decalvans and other processes [7]. Doubtless, they have an important role in the hair alterations described in this syndrome, as generalized alopecia with fault of eyebrows and eyelashes and later development of fine scarce hair, or defects as trichorrhexis nodosa, have been seen in one case [4]. We noted that these thin hairs showed different non-specific alterations, evidenced by scanning eleetronmicroscopy in one case.…”

“…Ocular pathology was present in our three patients. This is perhaps the most distressing manifestation of the process despite all therapeutie attempts, [4]. The older child is totally blind, and corneal ulcers are causing photophobia in the little boy, with serious discomfort threat to the future of his vision.…”

“…In 1915 Burns described for the first time the assoeiation of ichthyosiform dermatosis, deafness and keratitis [1], Similar patients have been reported showing a wide range of cutaneous and extraeutaneous assoeiated anomalies. [2][3][4][5]. In 1981 Skinner et al introduced the term KID-syndrome [6], in order to unify these cases stressing their main characteristics (keratitis, ichthyosis, deafness).…”

Progressive Isolated Partial Anhidrosis

“…Ross syndrome, a rare disease, with progressive segmental hypohidrosis, tonic pupils and areflexia of the lower limbs ( Holmes -Adie syndrome) has been reported in both sexes between the ages of three to fifty years [1,3]. Partial anhidrosis associated with multiple ectodermal defects, cleft lip and palate, neurosensory deafness and other anomalies has been reported and is an inherited disorder [4,5]. Partial anhidrosis, in the absence of associated skin or systemic disease is very rare.…”